MYO7A S1666C - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

MYO7A S1666C

(MYO7A Ser1666Cys)


Short summary

 

Variant evidence
Computational 1

GVGD: GV 111.67; GD 0.00; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.43);
PolyPhen=benign(0);
Condel=deleterious(0.562)
Mutation Tasting prediction: Polymorphism p value: 0.995232; Protein features (might be) affected (DOMAIN SH3 gets lost).

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr11:76912636: 58.8% (6188/10518) in EVS
  • T @ chr11:76590283: 56.5% (70/124) in GET-Evidence
  • Frequency shown in summary reports: 58.8% (6188/10518)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr11:76912636

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom T @ chr11:76912636

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr11:76912636

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr11:76912636

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom T @ chr11:76912636

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom T @ chr11:76912636

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr11:76912636

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr11:76912636

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr11:76912636

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr11:76912636

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr11:76912636

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom T @ chr11:76912636

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom T @ chr11:76912636

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr11:76912636

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom T @ chr11:76912636

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom T @ chr11:76912636

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom T @ chr11:76912636

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr11:76912636

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr11:76912636

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr11:76912636

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom T @ chr11:76912636

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom T @ chr11:76912636

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom T @ chr11:76912636

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr11:76912636

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr11:76912636

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr11:76590284

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chr11:76590284

 

GS07357 - var-GS07357-1100-36-ASM
hom T @ chr11:76590284

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr11:76590284

 

GS18502 - var-GS18502-1100-36-ASM
hom T @ chr11:76590284

 

GS18504 - var-GS18504-1100-36-ASM
hom T @ chr11:76590284

 

GS18505 - var-GS18505-1100-36-ASM
hom T @ chr11:76590284

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr11:76590284

 

GS18517 - var-GS18517-1100-36-ASM
hom T @ chr11:76590284

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr11:76590284

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr11:76590284

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr11:76590284

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chr11:76590284

 

GS19020 - var-GS19020-1100-36-ASM
hom T @ chr11:76590284

 

GS19025 - var-GS19025-1100-36-ASM
hom T @ chr11:76590284

 

GS19026 - var-GS19026-1100-36-ASM
hom T @ chr11:76590284

 

GS19129 - var-GS19129-1100-36-ASM
hom T @ chr11:76590284

 

GS19238 - var-GS19238-1100-36-ASM
hom T @ chr11:76590284

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr11:76590284

 

GS19240 - var-GS19240-1100-36-ASM
hom T @ chr11:76590284

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr11:76590284

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr11:76590284

 

GS19700 - var-GS19700-1100-36-ASM
hom T @ chr11:76590284

 

GS19701 - var-GS19701-1100-36-ASM
hom T @ chr11:76590284

 

GS19704 - var-GS19704-1100-36-ASM
hom T @ chr11:76590284

 

GS19735 - var-GS19735-1100-36-ASM
hom T @ chr11:76590284

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr11:76590284

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr11:76590284

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr11:76590284

 

GS21767 - var-GS21767-1100-36-ASM
hom T @ chr11:76590284

 

Other external references
 

    dbSNP
  • rs2276288
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the MYO7A gene
    Usher Syndrome Type 1
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    DFNA11 Nonsyndromic Hearing Loss and Deafness
    Usher Syndrome Type 1B
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYO7A
    Web search results (8 hits -- see all)
  • Pigmentation-related genes and their implication in malignant ...
    Pigmentation-related genes and their implication in malignant melanoma susceptibility. ... an association with the variant S1666C (rs2276288) in the MYO7A gene (OR 1.35; 95% CI ...
    www.ncbi.nlm.nih.gov/pubmed/19320733
  • Melanoma Molecular Map Project
    In an Italian study on familial melanoma, 68/204 (33%) melanoma-prone families showed ... genes (OCA2 R419Q and MYO7A S1666C) are associated with increased ...
    www.mmmp.org/MMMP/import.mmmp?page=archive_news.mmmp
  • Pigmentation-related genes and their implication in malignant ...
    Pigmentation-related genes and their implication in malignant melanoma susceptibility. ... an association with the variant S1666C (rs2276288) in the MYO7A gene (OR 1.35; 95% CI ...
    www.infodoctor.org:8080/uid=19320733
  • Feito, M (Marta)
    Feito, M (Marta) :: Genetic analysis of the vitamin D receptor gene in two epithelial ... an association with the variant S1666C (rs2276288) in the MYO7A gene (OR 1.35; 95% CI ...
    lib.bioinfo.pl/auid:8494792
  • Genetic analysis of the vitamin D receptor gene in two ...
    We also describe, for the first time, an association with the variant S1666C (rs2276288) in the MYO7A gene (OR 1.35; 95% CI 1.04-1.76; P = .03) ...
    lib.bioinfo.pl/pmid:19105801
  • HPS1 Gene, HPS1 Transcript, HPS1 Protein, and HPS1 Antibody ...
    Homo sapiens. This gene encodes a protein that may play a role in organelle biogenesis ... an association with the variant S1666C (rs2276288) in the MYO7A gene (OR 1.35; 95% CI ...
    refgene.com/gene/3257

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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